Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1568528298
rs1568528298 		0.925 0.120 19 13317254 frameshift variant -/T delins
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		0.700 0
dbSNP: rs779221807
rs779221807 		0.925 0.120 19 13212204 stop gained G/A snv
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		0.700 0
dbSNP: rs794727411
rs794727411 		0.851 0.160 19 13261526 missense variant C/G;T snv
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		0.700 0